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• W2029549757 abstract "The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases." @default.
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• W2029549757 date "2003-04-23" @default.
• W2029549757 modified "2023-10-14" @default.
• W2029549757 title "Analysis of the ?-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity" @default.
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• W2029549757 doi "https://doi.org/10.1002/mds.10476" @default.
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